ClinVar Miner

Submissions for variant NM_002485.4(NBN):c.797C>T (p.Pro266Leu) (rs769420)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129165 SCV000183897 benign Hereditary cancer-predisposing syndrome 2014-12-12 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000425619 SCV000511715 benign not provided 2016-12-30 criteria provided, single submitter clinical testing
Color RCV000129165 SCV000685826 benign Hereditary cancer-predisposing syndrome 2014-11-25 criteria provided, single submitter clinical testing
GeneDx RCV000121625 SCV000170636 benign not specified 2014-02-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
ITMI RCV000121625 SCV000085823 not provided not specified 2013-09-19 no assertion provided reference population
Invitae RCV000206032 SCV000261615 benign Microcephaly, normal intelligence and immunodeficiency 2018-01-25 criteria provided, single submitter clinical testing
PreventionGenetics RCV000121625 SCV000806453 benign not specified 2017-10-11 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000121625 SCV000601702 benign not specified 2016-09-08 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000425619 SCV000889557 benign not provided 2016-09-08 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000129165 SCV000788082 likely benign Hereditary cancer-predisposing syndrome 2018-02-20 no assertion criteria provided clinical testing

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